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 TitleAuthors / EditorsDate
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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TORC1 organized in inhibited domains (TOROIDs) regulate TORC1 activity Prouteau, Manoel; Desfosses, Ambroise; Sieben, Christian; Bourgoint, Clelia; ... Loewith, Robbie Joséph 2017
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The forensic use of behavioral genetics in criminal proceedings: Case of the MAOA-L genotype McSwiggan, Sally; Elger, Bernice Simone; Appelbaum, Paul S 2017
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Genetic effects on gene expression across human tissues GTEx Consortium 2017
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The HLA-B landscape of Africa: Signatures of pathogen-driven selection and molecular identification of candidate alleles to malaria protection Sanchez-Mazas, Alicia; Černý, Viktor; Di, Da; Buhler, Stéphane; ... Nunes, Jose Manuel 2017
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H 2017
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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium 2015
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Assessing allele-specific expression across multiple tissues from RNA-seq read data Pirinen, Matti; Lappalainen, Tuuli Emilia; Zaitlen, Noah A; Dermitzakis, Emmanouil; ... Rivas, Manuel A 2015
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins Buil Demur, Alfonso Alberto; Brown, Andrew Anand; Lappalainen, Tuuli Emilia; Viñuela, Ana; ... Dermitzakis, Emmanouil 2015
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αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia Buitrago, Lorena; Rendon, Augusto; Liang, Yupu 2015
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HLA-A-B-C-DRB1-DQB1 phased haplotypes in 124 Nigerian families indicate extreme HLA diversity and low linkage disequilibrium in Central-West Africa Testi, M; Battarra, M; Lucarelli, G; Isgro, A; ... Sanchez-Mazas, Alicia 2015
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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HLA variation reveals genetic continuity rather than population group structure in East Asia Di, Da; Sanchez-Mazas, Alicia 2014
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Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data Waszak, Sebastian M; Kilpinen, Leena Helena; Gschwind, Andreas R; Orioli, Andrea; ... Deplancke, Bart 2014
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Putative cis-regulatory drivers in colorectal cancer Ongen, Halit; Andersen, Claus L; Bramsen, Jesper B; Oster, Bodil; ... Dermitzakis, Emmanouil 2014
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Genetic implication of a novel thiamine transporter in human hypertension International Consortium for Blood Pressure Genome-Wide Association Studies 2014
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Disentangling human tolerance and resistance against HIV. Regoes, Roland R; McLaren, Paul J; Battegay, Manuel; Bernasconi, Enos; ... Fellay, Jacques 2014
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Limited clinical benefit of minority K103N and Y181C-variant detection in addition to routine genotypic resistance testing in antiretroviral therapy-naive patients Metzner, Karin J; Scherrer, Alexandra U; von Wyl, Viktor; Böni, Jürg; ... Günthard, Huldrych F 2014
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Prédispositions génétiques dans l'allergie médicamenteuse : importance du HLA Bergmann, Marcel; Villard, Jean; Caubet, Jean-Christoph Roger J-P 2014
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HLA-C expression levels define permissible mismatches in hematopoietic cell transplantation Petersdorf, Effie W; Gooley, Theodore A; Malkki, Mari; Bacigalupo, Andrea P; ... Carrington, Mary 2014
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High-allelic variability in HLA-C mRNA expression: association with HLA-extended haplotypes Bettens, F; Brunet, L; Tiercy, Jean-Marie 2014
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease Holmans, Peter; Moskvina, Valentina; Jones, Lesley; Sharma, Manu; ... Morris, Huw R 2013
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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription Kilpinen, Leena Helena; Waszak, Sebastian M; Gschwind, Andreas R; Raghav, Sunil K; ... Dermitzakis, Emmanouil 2013
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The distribution of MICA alleles in an Austrian population: evidence for increasing polymorphism Wenda, Sabine; Faé, Ingrid; Sanchez-Mazas, Alicia; Nunes, Jose Manuel; ... Fischer, Gottfried F 2013
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil 2013
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Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls Brenner, Darren R; Brennan, Paul; Boffetta, Paolo; Amos, Christopher I; ... Hung, Rayjean J 2013
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Lack of strong effect modification by NFE2L2/CYP3A5/ABO of the risk of venous thrombosis associated with oral hormone therapy Blondon, Marc; Wiggins, K L; Harrington, L B; Psaty, B M; Smith, N L 2013
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A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study Peters, Ulrike; North, Kari E; Sethupathy, Praveen; Buyske, Steve; ... Kooperberg, Charles 2013
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Origin of minority drug-resistant HIV-1 variants in primary HIV-1 infection Metzner, Karin J; Scherrer, Alexandra U; Preiswerk, Benjamin; Joos, Beda; ... Günthard, Huldrych F 2013
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Significance of ethnicity in the risk of acute graft-versus-host disease and leukemia relapse after unrelated donor hematopoietic stem cell transplantation Morishima, Yasuo; Kawase, Takakazu; Malkki, Mari; Morishima, Satoko; ... Petersdorf, Effie W 2013
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Frequency and determinants of pregnancy-induced child-specific sensitization Hönger, G; Fornaro, I; Granado, C; Tiercy, Jean-Marie; ... Schaub, S 2013
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IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes Bochud, Pierre-Yves; Bibert, Stéphanie; Kutalik, Zoltán; Patin, Etienne; ... Negro, Francesco 2012
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New range of vectors with a stringent 5-fluoroorotic acid-based counterselection system for generating mutants by allelic replacement in Staphylococcus aureus Redder, Peter; Linder, Patrick 2012
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HLA class I sensitization in islet transplant recipients: report from the Collaborative Islet Transplant Registry Naziruddin, Bashoo; Wease, Steve; Stablein, Donald; Barton, Franca B; ... Alejandro, Rodolfo 2012
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Genotype-based test in mapping cis-regulatory variants from allele-specific expression data Lefebvre, Jean Francois; Vello, Emilio; Ge, Bing; Montgomery, Stephen; ... Labuda, Damian 2012
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NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz 2012
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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
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Landscape of transcription in human cells Djebali, Sarah; Davis, Carrie A 2012
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An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium 2012
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Large-scale replication and heterogeneity in Parkinson disease genetic loci Sharma, Manu 2012
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Discrepancies in reporting the CAG repeat lengths for Huntington's disease Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; ... Landwehrmeyer, G Bernhard 2012
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Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, G; Labuda, M; Gagné, V; ... Krajinovic, M 2012
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Replication of association between a SCN1A splice variant and febrile seizures Le Gal, François; Trachsler-Salzmann, Annick; Crespel, Arielle; Malafosse, Alain 2011
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War exposure, 5-HTTLPR genotype and lifetime risk of depression Artero, Sylvaine; Touchon, Jacques; Dupuy, Anne-Marie; Malafosse, Alain; Ritchie, Karen 2011
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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies Nalls, Michael A; Plagnol, Vincent; Hernandez, Dena G; Sharma, Manu; ... Wood, Nicholas W 2011
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Kern, Ilse 2011
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